{
    "disease_id": "DOID:0110853",
    "recommended_name": {
        "id": "DOID:0110853",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110853",
        "name": "rhizomelic chondrodysplasia punctata type 3",
        "description": "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the AGPS gene on chromosome 2q31.2."
    },
    "synonyms": [
        {
            "id": "DOID:0110853",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110853",
            "name": "Alkyldihydroxyacetonephosphate Synthase Deficiency",
            "description": ""
        },
        {
            "id": "DOID:0110853",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110853",
            "name": "Alkylglycerone-Phosphate Synthase Deficiency",
            "description": ""
        },
        {
            "id": "DOID:0110853",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110853",
            "name": "AGPS deficiency",
            "description": ""
        },
        {
            "id": "DOID:0110853",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110853",
            "name": "RCDP3",
            "description": ""
        },
        {
            "id": "MONDO:0010823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010823",
            "name": "rhizomelic chondrodysplasia punctata type 3",
            "description": "Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the AGPS gene."
        },
        {
            "id": "MONDO:0010823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010823",
            "name": "AGPS deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010823",
            "name": "alkyldihydroxyacetonephosphate synthase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010823",
            "name": "alkylglycerone-phosphate synthase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010823",
            "name": "AGPS rhizomelic chondrodysplasia punctata",
            "description": ""
        },
        {
            "id": "MONDO:0010823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010823",
            "name": "RCDP3",
            "description": ""
        },
        {
            "id": "MONDO:0010823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010823",
            "name": "rhizomelic chondrodysplasia punctata caused by mutation in AGPS",
            "description": ""
        },
        {
            "id": "MONDO:0010823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010823",
            "name": "rhizomelic chondrodysplasia punctata type 3",
            "description": ""
        },
        {
            "id": "MONDO:0010823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010823",
            "name": "rhizomelic chondrodysplasia punctata, type 3",
            "description": ""
        },
        {
            "id": "MIM:600121",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600121",
            "name": "Rhizomelic chondrodysplasia punctata 3",
            "description": "Rhizomelic chondrodysplasia punctata 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110853"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110853",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110853",
            "categories": []
        },
        {
            "id": "MONDO:0010823",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010823",
            "categories": []
        },
        {
            "id": "MIM:600121",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600121",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8C0I1-1",
            "uniprot_ac": "Q8C0I1",
            "uniprot_id": "ADAS_MOUSE",
            "refseq_ac": "NP_766254",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alkyldihydroxyacetonephosphate synthase, peroxisomal",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.26",
                    "type": "synonym"
                },
                {
                    "name": "Alkyl-DHAP synthase",
                    "type": "synonym"
                },
                {
                    "name": "Alkylglycerone-phosphate synthase",
                    "type": "synonym"
                },
                {
                    "name": "alkyl-DHAP synthase",
                    "type": "synonym"
                },
                {
                    "name": "alkyldihydroxyacetonephosphate synthase, peroxisomal",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Agps",
                    "type": "recommended"
                },
                {
                    "name": "5832437L22",
                    "type": "synonym"
                },
                {
                    "name": "9930035G10Rik",
                    "type": "synonym"
                },
                {
                    "name": "Adaps",
                    "type": "synonym"
                },
                {
                    "name": "Adas",
                    "type": "synonym"
                },
                {
                    "name": "Adhaps",
                    "type": "synonym"
                },
                {
                    "name": "Adps",
                    "type": "synonym"
                },
                {
                    "name": "Agps",
                    "type": "synonym"
                },
                {
                    "name": "Aldhpsy",
                    "type": "synonym"
                },
                {
                    "name": "bs2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8C0I1-1",
            "evidence": [
                {
                    "id": "0110853",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110853"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O00116-1",
            "uniprot_ac": "O00116",
            "uniprot_id": "ADAS_HUMAN",
            "refseq_ac": "NP_003650",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alkyldihydroxyacetonephosphate synthase, peroxisomal",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.26",
                    "type": "synonym"
                },
                {
                    "name": "Aging-associated gene 5 protein",
                    "type": "synonym"
                },
                {
                    "name": "Alkyl-DHAP synthase",
                    "type": "synonym"
                },
                {
                    "name": "Alkylglycerone-phosphate synthase",
                    "type": "synonym"
                },
                {
                    "name": "aging-associated gene 5 protein",
                    "type": "synonym"
                },
                {
                    "name": "aging-associated protein 5",
                    "type": "synonym"
                },
                {
                    "name": "alkyl-DHAP synthase",
                    "type": "synonym"
                },
                {
                    "name": "alkyldihydroxyacetonephosphate synthase, peroxisomal precursor",
                    "type": "synonym"
                },
                {
                    "name": "alkyldihydroxyacetonephosphate synthase, peroxisomal",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AGPS",
                    "type": "recommended"
                },
                {
                    "name": "AAG5",
                    "type": "synonym"
                },
                {
                    "name": "ADAP-S",
                    "type": "synonym"
                },
                {
                    "name": "ADAS",
                    "type": "synonym"
                },
                {
                    "name": "ADHAPS",
                    "type": "synonym"
                },
                {
                    "name": "ADPS",
                    "type": "synonym"
                },
                {
                    "name": "AGPS",
                    "type": "synonym"
                },
                {
                    "name": "ALDHPSY",
                    "type": "synonym"
                },
                {
                    "name": "RCDP3",
                    "type": "synonym"
                }
            ],
            "record_id": "O00116-1",
            "evidence": [
                {
                    "id": "600121",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600121"
                },
                {
                    "id": "0110853",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110853"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9EQR2-1",
            "uniprot_ac": "Q9EQR2",
            "uniprot_id": "ADAS_RAT",
            "refseq_ac": "NP_445802",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alkyldihydroxyacetonephosphate synthase, peroxisomal",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.26",
                    "type": "synonym"
                },
                {
                    "name": "Alkyl-DHAP synthase",
                    "type": "synonym"
                },
                {
                    "name": "Alkylglycerone-phosphate synthase",
                    "type": "synonym"
                },
                {
                    "name": "alkyl-DHAP synthase",
                    "type": "synonym"
                },
                {
                    "name": "alkyl-dihydroxyacetonephosphate synthase",
                    "type": "synonym"
                },
                {
                    "name": "alkyldihydroxyacetone phosphate synthase",
                    "type": "synonym"
                },
                {
                    "name": "alkyldihydroxyacetonephosphate synthase, peroxisomal",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Agps",
                    "type": "recommended"
                },
                {
                    "name": "Adap-s",
                    "type": "synonym"
                },
                {
                    "name": "Adps",
                    "type": "synonym"
                },
                {
                    "name": "Ads",
                    "type": "synonym"
                },
                {
                    "name": "Agps",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9EQR2-1",
            "evidence": [
                {
                    "id": "0110853",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110853"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V778-1",
            "uniprot_ac": "Q9V778",
            "uniprot_id": "ADAS_DROME",
            "refseq_ac": "NP_001188935",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alkylglycerone-phosphate synthase",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.26",
                    "type": "synonym"
                },
                {
                    "name": "Agps-PD",
                    "type": "synonym"
                },
                {
                    "name": "Alkyl-DHAP synthase",
                    "type": "synonym"
                },
                {
                    "name": "Alkyldihydroxyacetonephosphate synthase",
                    "type": "synonym"
                },
                {
                    "name": "CG10253-PD",
                    "type": "synonym"
                },
                {
                    "name": "alkyldihydroxyacetonephosphate synthase",
                    "type": "synonym"
                },
                {
                    "name": "alkylglycerone phosphate synthase, isoform D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Agps",
                    "type": "recommended"
                },
                {
                    "name": "ADPS",
                    "type": "synonym"
                },
                {
                    "name": "AGPS",
                    "type": "synonym"
                },
                {
                    "name": "Agps",
                    "type": "synonym"
                },
                {
                    "name": "CG10253",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10253",
                    "type": "synonym"
                },
                {
                    "name": "dAGPS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V778-1",
            "evidence": [
                {
                    "id": "0110853",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110853"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110853"
}